Parents Open Up: Navigating Challenges and Finding Support for Children with a Rare Disease
Health & Patients
Any parent can tell you that when their child is sick, they would do anything to help them. That’s true for a common cold or a more complicated illness.
Parents with children who have rare diseases face daunting challenges and may have few resources to lean on. By the nature of the rare condition, they may not know anyone in their network who has dealt with what they’re going through, causing a sense of isolation on top of the worry and fear they may be feeling.
Here’s what two caregivers had to say about facing central precocious puberty (CPP) in their young child. CPP refers to early physical changes associated with puberty and is believed to affect between 1 in 5,000 to 1 in 10,000 children in the United States.1
“The Fear and Anxiety Was Very Overwhelming”
Rebecca began noticing signs of puberty in her daughter Hannah when she was just 2 years old. The mother of three, a nurse herself, had no idea what could be causing this growth.
Hannah’s pediatrician referred the family to a pediatric endocrinologist, who was able to diagnose Hannah with CPP.
“I Was Almost in Denial”
Hannah’s father, Chong, was in a state of disbelief after Hannah’s diagnosis. He didn’t understand the condition, and he worried about the fact that she was experiencing this health challenge at such a young age.
In the end, he just wanted to get his daughter help.
Both parents did research to navigate the diagnosis, the condition, and their treatment options. They had a lot of questions, especially in the beginning.
As they gained a better understanding of CPP, they began sharing their diagnosis with friends and family, most of whom had never heard of the condition or symptoms.
“Hannah’s Diagnosis Has Changed My Life”
Rebecca believes that Hannah’s CPP diagnosis changed her life, both personally and professionally. She’s grateful for the experience and where it has brought her.
After learning more about CPP, she made a career change, from neonatal nurse to pediatric endocrinology nurse. It’s because of Hannah that Rebecca feels she can give back and support other families who are going through their own pediatric endocrinology journeys.
“She Brings Joy to Our Lives Every Single Day”
Chong underscores that the rare disease did not dampen the joy that Hannah brought to their lives. Five years after her diagnosis, Hannah was thriving and loved doing “normal” kid things—eating ice cream, playing arts and crafts, and going to the park.
Rebecca said, “She is just your typical 7-year-old.”
Learn more about Hannah, Rebecca, and Chong’s story.
For additional information on CPP, visit The Magic Foundation.
Reference:
1. Precocious Puberty. National Organization for Rare Disorders. Updated August 7, 2017. Accessed February 18, 2025. https://rarediseases.org/rare-diseases/precocious-puberty
